Date of Award

January 2022

Document Type

Thesis

Degree Name

Medical Doctor (MD)

Department

Medicine

First Advisor

John A. Elefteriades

Abstract

Introduction: Common origin of the innominate and left common carotid arteries, commonly known as “bovine arch” (BA), is a congenital anomaly of the aortic arch with a prevalence of 10-27% in the general population. Our prior studies have shown that BAA incidence is enriched in patients with thoracic aortic disease (TAD). While a subset of TAD is known to be familial, it is not known whether BA results from a genetic mutation, or simply an “accident” during embryogenesis. Our objective was to determine the heritability of BA from phenotypic pedigrees. Methods: We identified 24 probands with from an institutional database of 202 living patients with bovine arch who had previously been diagnosed with thoracic aortic aneurysm, and who had family members with previous chest computed tomography or magnetic resonance imaging scans. Aortic arch configuration of all first- and second-degree relatives was determined, and bovine arch classified by Type 1 and Type 2 configuration. Heritability of bovine arch was estimated using maximum-likelihood-based variance decomposition methodology implemented via the SOLAR package. Results: 43 relatives of 24 probands with bovine arch had pre-existing imaging available for review. The prevalence of bovine arch in relatives with chest imaging was 53% (N=23) and did not differ significantly by sex (male: 64.3%, females 55.6%, p=1). Of the 46 subjects with bovine arch, Type I configuration was present in 46% (N=21) and Type II in 54% (N=25). Bovine arch was shown to be highly heritable with a heritability estimate (h2) of 0.71 (p=0.048). Conclusion: In our sample population, the high heritability of BAA suggests that BAA is genetic. Given the association between BAA and TAA, our demonstration of the heritability of BAA may warrant imaging of family members.

Comments

This thesis is restricted to Yale network users only. This thesis is permanently embargoed from public release.

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